A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183142



Internal ID20750182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10427919..10443397hg38UCSC Ensembl
chr12:10580518..10595996hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815479
hg1915479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473103
Supporting Variants
Samples
Known GenesKLRC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183142
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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